Abstract 3D printing technology has gained great interest since it enables decentralized and
customized manufacturing of 3D‐printed electronic devices. From an electrochemical point …

Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-
synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and …

Ornithine transcarbamylase (OTC) plays a significant role in the urea cycle, a metabolic
pathway functioning in the liver to detoxify ammonia. OTC deficiency (OTCD) is the most …

Neurometabolic diseases are a group of individually rare but numerous and heterogeneous
genetic diseases best known to paediatricians. The more recently reported adult forms may …

Even in this post genomic era, no national level newborn screening (NBS) programs for
inborn errors of metabolism (IEMs) are yet available in several develo** countries …

Plasma amino acids are generally analyzed through ion exchange chromatography, a
reproducible but time‐consuming method. Here, we report the optimization of a reverse …

Context: There are severe and rare groups of genetic disorders due to defects in metabolic
pathways, and they are generally called inborn errors of metabolism. Amino acids, as the …

Congenital metabolic diseases are a group of hereditary disorders caused by the deficiency
of a single specific enzyme activity. Without appropriate therapy, affected patients suffer …

Urea cycle disorders (UCDs), including OTC deficiency (OTCD), are life‐threatening
diseases with a broad clinical spectrum. Early diagnosis and initiation of treatment based on …

Kuwait is a small Arabian Gulf country with a high rate of consanguinity and where a
national newborn screening program was expanded in October 2014 to include a wide …